ClinVar Miner

List of variants in gene TTN studied for Inborn genetic diseases

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Total variants: 24
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HGVS dbSNP
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His) rs373709706
NM_001267550.2(TTN):c.105486del (p.Trp35162fs) rs1553485330
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397
NM_001267550.2(TTN):c.1675A>T (p.Thr559Ser) rs1554029913
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) rs201029552
NM_001267550.2(TTN):c.3331C>T (p.Pro1111Ser) rs727504210
NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile) rs777119867
NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu) rs201390600
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys) rs367774903
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val) rs374058726
NM_001267550.2(TTN):c.58567_58568dup (p.Lys19524fs) rs1553650442
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter) rs878854324
NM_001267550.2(TTN):c.68887A>C (p.Thr22963Pro) rs771761816
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln) rs201694149
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.80817T>G (p.Ile26939Met) rs758285371
NM_001267550.2(TTN):c.86003T>A (p.Ile28668Lys) rs374022393
NM_001267550.2(TTN):c.90007T>C (p.Phe30003Leu) rs761627535
NM_001267550.2(TTN):c.9533A>T (p.His3178Leu) rs1334781459
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr) rs201023432
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.97949G>A (p.Cys32650Tyr) rs535612231

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